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Author: Per Magne Ueland Publisher: CRC Press ISBN: 1498713882 Category : Medical Languages : en Pages : 225
Book Description
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in both folate and homocysteine metabolism. It first achieved medical recognition in 1972 with the report of severe deficiency of MTHFR in a patient with homocystinuria, an inborn error of metabolism characterized by marked elevation of homocyst(e)ine in plasma and urine. Although the majority of cases of homocystinuria are due to a deficiency of the first enzyme in the transsulfuration pathway for homocysteine metabolism, cystathionine-ß-synthase (CBS), disruption of homocysteine remethylation to methionine can also result in homocystinuria. With the identification of additional patients with severe MTHFR deficiency, the heterogeneity of this disorder became manifest. This book covers many of the complex traits that have been reported to be influenced by the well-characterized 677C→T variant; there is less information on the 1298A→C variant, but it is discussed where appropriate. It is quite surprising, and unique, that a single variant should influence such a wide variety of clinical conditions.
Author: Per Magne Ueland Publisher: CRC Press ISBN: 1498713882 Category : Medical Languages : en Pages : 225
Book Description
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in both folate and homocysteine metabolism. It first achieved medical recognition in 1972 with the report of severe deficiency of MTHFR in a patient with homocystinuria, an inborn error of metabolism characterized by marked elevation of homocyst(e)ine in plasma and urine. Although the majority of cases of homocystinuria are due to a deficiency of the first enzyme in the transsulfuration pathway for homocysteine metabolism, cystathionine-ß-synthase (CBS), disruption of homocysteine remethylation to methionine can also result in homocystinuria. With the identification of additional patients with severe MTHFR deficiency, the heterogeneity of this disorder became manifest. This book covers many of the complex traits that have been reported to be influenced by the well-characterized 677C→T variant; there is less information on the 1298A→C variant, but it is discussed where appropriate. It is quite surprising, and unique, that a single variant should influence such a wide variety of clinical conditions.
Author: Charles R. Scriver Publisher: New York ; Montreal : McGraw-Hill ISBN: 9780071363198 Category : Genetic disorders Languages : en Pages : 6338
Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Mariana Costa Cabo Publisher: ISBN: Category : Languages : en Pages :
Book Description
Objectives:To clarify the role of methylenetetrahydrofolate reductase (MTHFR) enzyme polymorphism in panic disorder (PD), we investigated a group of treatment resistant Panic Disorder patients (n = 19) using pharmacogenetic testing. We also assessed severity of symptoms and other clinical variables in the PD patients.Background:Two polymorphisms inMTHFRlead to a reduction in enzyme activity; rs1801133 and rs1801131. The frequency of homozygosis for the mutation in the general population is estimated in 10.5%. Reduced methylenetetrahydrofolate reductase is associated with increased risk of vascular disease and depression. Depressed patients identified as treatment resistant have a 76% chance of having a MTHFR mutation. However, little is known about the influence of MTHFR polymorphisms in Panic Disorder.Material and Methods:Nineteen PD patients who had been treated with selective serotonin receptor inhibitors (40%), tricyclic antidepressants (40%) or venlafaxine (20%) for 8 weeks and did not achieve remission were included in this study. Gene variants were evaluated with large scale sequencing. The test detects 100% of the single nucleotide variants in the targeted areas (95% CI = 82 u2013 100) and 95% of small insertions or deletions ( 95% CI = 98.5 u2013 100).Results and Conclusions:5patients had normal methylenetetrahydrofolate reductase activity, 8 patients had intermediate enzyme activity and 6 patients had low enzyme activity. Lower enzyme activity was also associated with higher scores for severity of illness in the Clinical Global Impression Scale. From our findings, MTHFR polymorphisms could predict poorer response to treatment, however further studies with larger populations and a control group are required.
Author: Wei Gao Publisher: Springer Science & Business Media ISBN: 364203313X Category : Science Languages : en Pages : 565
Book Description
Numerous studies report that ultraviolet (UV) radiation is harmful to living organisms and detrimental to human health. Growing concerns regarding the increased levels of UV-B radiation that reach the earth's surface have led to the development of ground- and space-based measurement programs. Further study is needed on the measurement, modeling, and effects of UV radiation. The chapters of this book describe the research conducted across the globe over the past three decades in the areas of: (1) current and predicted levels of UV radiation and its associated impact on ecosystems and human health, as well as economic and social implications; (2) new developments in UV instrumentation, advances in calibration (ground- and satellite-based), measurement methods, modeling efforts, and their applications; and (3) the effects of global climate change on UV radiation. Dr. Wei Gao is a Senior Research Scientist and the Director of the USDA UV-B Monitoring and Research Program, Natural Resource Ecology Laboratory, Colorado State University. Dr. Gao is a SPIE fellow and serves as the Editor-in-Chief for the Journal of Applied Remote Sensing. Dr. Daniel L. Schmoldt is the National Program Leader for instrumentation and sensors at the National Institute of Food and Agriculture (NIFA) of the U.S. Department of Agriculture. Dr. Schmoldt served as joint Editor-in-Chief of the journal, Computers & Electronics in Agriculture, from 1997 to 2004. Dr. James R. Slusser retired in 2007 from the USDA UV-B Monitoring and Research Program at Colorado State University. He was active in the Society of Photo-Optical Instrumentation Engineers, the American Geophysical Union, and the American Meteorological Society. Dr. Slusser is currently pursuing his interests in solar energy and atmospheric transmission.
Author: Roger Evans Publisher: ISBN: 9781634833592 Category : Methylenetetrahydrofolate reductase Languages : en Pages : 102
Book Description
Methylenetetrahydrofolate Reductase (MTHFR) is a key enzyme involved in the folate pathway. Folate, a water soluble B vitamin, naturally present in fruits and vegetables, is a critical methyl donor for several molecular pathways necessary for cellular replication and maintenance. The authors of this book examine the importance of MTHFR in health and disease, including the folate requirements in healthy young women and its potential health implications and the role folate deficiency and MTHFR polymorphisms may play in the complex mechanism of global DNA hypomethylation. Other chapters explore and describe literature data on the involvement of MTHFR gene in HNC development and treatment outcomes and the role of MTHFR and other enzymes in the circulation of methyl in certain neurodegenerative diseases.
Author: Daniel Laskowitz Publisher: CRC Press ISBN: 1498766579 Category : Medical Languages : en Pages : 388
Book Description
Traumatic brain injury (TBI) remains a significant source of death and permanent disability, contributing to nearly one-third of all injury related deaths in the United States and exacting a profound personal and economic toll. Despite the increased resources that have recently been brought to bear to improve our understanding of TBI, the developme
Author: Frederick J. Suchy Publisher: Cambridge University Press ISBN: 1108911374 Category : Medical Languages : en Pages : 875
Book Description
Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Author: Per Magne Ueland
Author: Per Magne Ueland
Author: Charles R. Scriver
Author: Mariana Costa Cabo
Author: Wei Gao
Author: Ralph Carmel
Author: 
Author: Roger Evans
Author: 
Author: Daniel Laskowitz
Author: Frederick J. Suchy